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BRAF Mutation Analysis by Next Generation Sequencing

Test Code


Test Synonyms

EGFR inhibitor response


Colorectal cancer (CRC), hereditary non-polyposis colon cancer (HNPCC), metastatic melanoma, papillary thyroid carcinoma;

BRAF Mutation in Melanoma

The FDA has cleared Zelboraf™ (Vemurafenib) for the treatment of unresectable or metastatic melanoma patients with BRAF V600E mutation-positive tumors. Zelboraf significantly improved overall survival in people with previously untreated BRAF V600E mutation-positive metastatic melanoma, compared to chemotherapy.

BRAF V600E gene mutation is present in 30-60% of cutaneous melanomas.


Next Generation Sequencing Targeted HotSpots
QIAGEN® Human Tumor Actionable Mutations Panel (GeneRead™ DNAseq Targeted Panels V2) for targeted enrichment

Turnaround Time

10 days

Specimen Requirements

Formalin Fixed Paraffin Embedded tissue block
3 slides (3-5 uM) per marker on adhesion glass
NOTE: Include a surgical pathology report with the sample if sending a block and/or slides
5.0 mL (min. 3.0 mL) whole blood EDTA, Sodium Heparin or ACD
3.0 mL (min. 1.0 mL) bone marrow EDTA, Sodium Heparin or ACD

Specimen Stability
Indefinite at ambient temperature (18-25°C) Whole blood and Bone Marrow stable at 18-25°C for 72 hours or 4°C for up to 7 days
Storage & Handling

Ship ambient. Protect from extreme temperature with an ice pack. Separate ice pack from specimen

Causes for Rejection

Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days


Utilized as an independent predictor of colorectal cancer (CRC) patient responsiveness to EGFR inhibitor therapy and to assist with the differentiation of microsatellite instability high (MSI-H) hereditary non-polyposis colon cancer (HNPCC) from sporadic MSI-H CRC.

Between 40 and 60% of melanomas have an activating mutation in the gene encoding BRAF. A Phase III study by Genentech showed vemurafenib significantly improved overall survival in people with previously untreated BRAF V600 mutation-positive metastatic melanoma, compared to chemotherapy.

BRAF mutations are also found in 40-45% of papillary carcinomas, the overwhelming majority comprised of a BRAF kinase activating V600E mutation, for which there is only 10% prevalence in follicular variants of papillary carcinoma. BRAF mutation V600E is an unfavorable prognostic indicator, yet to be validated as a tool for stratifying surgery versus adjuvant therapy. American Thyroid Association recommends molecular testing may be considered for indeterminate cytology.

  1. Tol J et al. (2009). BRAF mutation in metastatic colorectal cancer. NEJM. 361:98-99.
  2. Di Nicolantonio F et al. (2008). Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol. 26:5705-5712.
  3. Loughrey MB et al. (2007). Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Familial Cancer. 6:301-310.
  4. Nikiforovf Y. (2011). Molecular analysis of thyroid tumors. Mod Pathol.Apr;24 Suppl 2:S34-43.
  5. Nikiforov Y et al.(2009) Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules. J Clin Endocrinol Metab 94:2092–2098.

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